The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2 hypointensity in the globus pallidus with a small hyperintensity in its medial part, called the "eye-of-the-tiger" sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the "eye-of-the-tiger" sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the "eye-of-the-tiger" sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the "eye-of-the-tiger" sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN.

Automatic imitation in youngsters with Gilles de la Tourette syndrome: A behavioral study.

It is widely known that humans have a tendency to imitate each other and that appropriate modulation of automatic imitative behaviors has a crucial function in social interactions. Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterized by motor and phonic tics. Apart from tics, patients with GTS are often reported to show an abnormal tendency to automatically imitate others' behaviors (i.e., echophenomena), which may be related to a failure in top-down inhibition of imitative response tendencies. The aim of the current study is to explore the top-down inhibitory mechanisms on automatic imitative behaviors in youngsters with GTS. Error rates and reaction times from 32 participants with GTS and 32 controls were collected in response to an automatic imitation task assessing the influence of observed movements displayed in the first-person perspective on congruent and incongruent motor responses. Results showed that participants with GTS had higher error rates than controls, and their responses were faster than those of controls in incompatible stimuli. Our findings provide novel evidence of a key difference between youngsters with GTS and typically developing participants in the ability to effectively control the production of own motor responses to sensory inputs deriving from observed actions.

Polymyography in the diagnosis of childhood onset movement disorders.

UNLABELLED: We report on the results of a clinical and polymyographic retrospective study of 61 paediatric patients with tremor, dystonia and/or myoclonus. Aim of the study was to verify the contribution of polymyography in the classification of these movement disorders and in their aetiological definition. METHODS: The movement disorders were clinically classified by two experts, based on clinical and videotape recordings evaluation; all patients underwent standardized polymyographic evaluation; aetiological diagnosis was performed according to diagnostic protocols for dystonia, myoclonus, tremor and psychogenic movement disorders. The polymyographic features were summarized in five different patterns (dystonia, subcortical myoclonus, myoclonic dystonia, tremor, normal) and compared with the clinical classification and with aetiological diagnosis. RESULTS: In more than 70% of the patients the polymyographic features were in accordance with the clinical classification; in 31% the polymyographic features allowed to identify a clinically unclassified movement disorder and in 19.6% disclosed a not clinically evident associated movement disorder. The polymyographic study did not contribute to the aetiological diagnosis, but was useful in supporting the clinical diagnosis of psychogenic movement disorder.

Videoendoscopic adenoidectomy with microdebrider.

After evaluating approaches proposed, over the last few years, by several Authors, to make the procedure of adenoidectomy safer and more accurate, we have developed a new procedure based on the combined use of a rigid 70 degrees endoscope with a video attachment and a microdebrider, both introduced through the oral cavity. This procedure offers several advantages: an improved field of vision, continuous suction of blood, and extreme precision in removing the adenoid tissue. Compared with current practices which employ the adenotome or curette, it is possible with our approach to remove adenoid tissue in the most important centres: the choanal and tubaric regions. The validity and safety of this videoendoscopic adenoidectomy with microdebrider has been demonstrated in 201 patients.

Brainstem encephalitis resulting from Epstein-Barr virus mimicking an infiltrating tumor in a child.

A case of a child with subacute neurologic features and imaging findings consistent with a brainstem encephalitis that was discovered to be related to a primary central nervous system infection caused by Epstein-Barr virus is presented. A brainstem tumor was initially suspected, but a correct diagnosis was formulated on the basis of the favorable clinical course and the detection of positive Epstein-Barr virus serology. In contrast to a prompt recovery of neurologic signs the neuroimaging alterations persisted for a longer time. The present report emphasizes the possible role of Epstein-Barr virus in the pathogenesis of infectious neurologic disorders in childhood, underlining the unusual presentation of a brainstem encephalitis, and considers the discrepancy between the course of neurologic features and the evolution of imaging alterations.

Unusual presentation and course of HIV-1 progressive encephalopathy.

The present report concerns a vertically human immunodeficiency virus type 1 (HIV-1)-infected 7-year-old child, in whom a neurodegenerative disease occurred after an acute neurologic disorder that was in all likelihood symptomatic of HIV-1 encephalitis. At the steady state the neurologic disease fulfilled the accepted criteria of HIV-related progressive encephalopathy of childhood and was characterized by involvement of multiple neural systems and subcortical dementia. The neurologic disease displayed, however, atypical presentation and course, and its acute focal onset led the authors to postulate an acute and direct involvement of the brain in HIV-1 infection. The correlation between the cliniconeuroradiologic data and levels of HIV-RNA in the cerebrospinal fluid and the response to different antiretroviral treatments are also discussed.

Follow-up of vertically HIV-1-infected long-surviving children.

This study describes the clinical, immunologic, and virological characteristics of 30 vertically human immunodeficiency virus type 1 (HIV-1)-infected children older than 8 years of age (long-survivors) before the introduction of protease inhibitors therapy. All of them were followed from birth. At the age of 8 years, 7 children presented no HIV-1-associated signs or only mild ones and only 5 had severe clinical manifestations (acquired immune deficiency virus [AIDS]). The remaining 18 children presented moderate signs with some immunodeficiency. The follow-up from 8 years of age (3.5 years on the average) showed that 6 children remained asymptomatic and were therefore defined as long-survivors nonprogressors (average, 13 years) and only 4 children developed AIDS. Progressive encephalopathy was the most striking clinical manifestation at follow-up and occurred in 6 children (always after immunodeficiency) with a polymorphic picture combining eye movement alterations, pyramidal signs and symptoms and mental deterioration. The majority of our long-survivors carried a virus with nonsyncytia-inducing phenotype, thus confirming its association with long survival. A switch to syncytia-inducing phenotype was observed only in 2 cases during the follow-up, but their clinical status did not change at follow-up.

Spinal accessory nerve function following neck dissection.

Spinal accessory nerve (SAN) function was evaluated by electromyography (EMG) and muscle testing in 36 patients who underwent neck dissection with SAN preservation. The results emphasized that SAN function was relatively good after conservative neck surgery. Muscle testing findings showed better function than did EMG findings. After surgery the trapezius muscle functioned more efficiently than the sternocleidomastoid (SCM) muscle probably because of the more traumatic surgical handling of both the SCM muscle and its SAN branch. In order to obtain the functional advantages of SAN preservation, the authors suggest that the conservative procedure in radical neck dissection be used whenever warranted by oncologic diagnosis.

Extra and intracranial meningiomas.

Two cases of extracranial meningiomas respectively in the left frontal region in a 64-year-old woman and in the right frontal sinus in a 13-year-old boy are reported. Both cases were associated with an intracranial meningioma later detected after primary histologic diagnosis of the extracranial surgical specimen. The possibility of an extracranial meningioma, especially when an angioblastic, fibroblastic or meningothelial pattern is prominent, must always be considered together with the existence of an intracranial equivalent, as our 2 cases clearly demonstrate.

[Surgical treatment of benign thyroid nodules]. / Trattamento chirurgico della patologia tiroidea nodulare benigna.

Benign thyroid nodules is a significant clinical problem since it involves more than 90% of all thyroid surgery. This has led the authors to perform a retrospective study of 190 patients suffering from this pathology out of 299 patients who underwent surgery from 1979 to 1995. 89 total thyroidectomies and 101 radical hemithyroidectomies were performed in patients suffering from benign thyroid nodules. Two cases of recurrent monolateral paralysis were found as well as 3 cases of permanent hypoparathyroidism in those patients who underwent total thyroidectomies. The results of numerous authors as well as the present case review indicate that more radical surgery does not significantly affect the degree of permanent complications. For this reason the authors are convinced that such radical surgery should be the treatment of choice, particularly in young patients whose life expectancy is long and where the likelihood of recurrence is greater.

Barbed anterior pharyngoplasty: an evolution of anterior palatoplasty.

We present a new surgical technique for the treatment of snoring and mild obstructive sleep apnoea syndrome. This is a modification of anterior palatoplasty, and its main features are the use of self-locking (barbed) threads and the possibility of stabilise the palatal suture by fixing it to anatomical bone and fibrous structures. The technique is described in detail and some preliminary results are presented.

Identification of obstructive sites and patterns in obstructive sleep apnoea syndrome by sleep endoscopy in 614 patients.

The aim of this study was to analyze and report sites and patterns of obstruction observed during sleep endoscopy in a large group of patients and suggest consequent therapeutic prescriptions. 614 consecutive patients who approached the Centre for Diagnosis and Treatment of Respiratory Sleep Disorders underwent sleep endoscopy. We used propofol to induce sleep, monitoring the value of bispectral index to evaluate the depth of sedation. For each patient, we recorded obstruction sites,obstruction patterns and the effects of the mandibular pull-up manoeuvre on both obstruction and snoring. We ascertained that, in almost all patients, the noise of snoring was generated at the oropharyngeal level. The obstruction at the oropharyngeal level, either in isolation or in combination with other structures, is far more common. The mandibular pull-up manoeuvre was effective in reducing or resolving the obstruction in a large number of patients, even though their AHI values were high. For those patients having an AHI over 15, we point out the various therapeutic indications gained from the sleep endoscopy examinations. Drug-induced (propofol) sleep endoscopy can be considered be a safe procedure, easily practicable, valid and reliable; we therefore consider it a fundamental clinical investigation that can be essential when choosing treatment.

Partial seizures associated with antiphospholipid antibodies in childhood.

We report antiphospholipid antibody positivity in three of a consecutive series of 23 children presenting partial epileptic seizures. There was no clinical or serological evidence of systemic lupus erythematosus or other connective-tissue disease. Neither computed tomography nor magnetic resonance imaging revealed ischemic alteration. The presence of antiphospholipid antibodies in 3/23 children may indicate that immune-mediated neuronal damage could be a pathogenetic mechanism for partial epilepsy.

Neuromyelitis optica in a child with atypical onset and severe outcome.

We report on a seven-year-old boy with inflammatory relapsing-remitting CNS disease, involving the optic nerves and spinal cord, with increasingly severe sequelae after each relapse. Clinical course, neuroimaging and laboratory findings were consistent with neuromyelitis optica. Biopsy of leptomeninges and underlying nervous tissue showed increased vascularization and thickened hyalinized vessel walls, reported as suggestive for neuromyelitis optica. Clinical features at onset were atypical, rendering the case highly unusual and the diagnosis tentative.

Neurological disorders, other than stroke, associated with antiphospholipid antibodies in childhood.

We report the results of a systematic study on the association of antiphospholipid antibodies (aPLs) with some neurological disease other than stroke in a childhood population. Patients affected by migraine, benign intracranial hypertension (BIH) or unilateral movement disorders, such as hemichorea and hemidystonia with acute-subacute onset, were screened for aPLs. None of them had clinical or serological evidence of Systemic Lupus Erythematosus (SLE) or other connective tissue disease. Moderate to high levels of anticardiolipin antibodies (aCL) and/or positive Lupus Anticoagulant (LA) were demonstrated in 6 out of 17 patients with migraine, in 3 out of 4 patients with BIH and in all of the 5 patients showing unilateral movement disorders. The association between aPLs and these neurological conditions, usually regarded as cryptogenic, may suggest a possible pathogenetic mechanism.

Epstein-Barr virus DNA in the cerebrospinal fluid of an HIV patient with primary cerebral lymphoma.

UNLABELLED: The case of a 7-month-old boy with vertically acquired immunodeficiency syndrome and multifocal primary cerebral lymphoma is reported. Neither neurological nor neuroradiological findings contributed towards the appropriate diagnosis. Positive Epstein-Barr virus DNA, assessed by means of polymerase chain reaction in cerebrospinal fluid, strongly suggested a diagnosis of primary cerebral lymphoma, which was subsequently confirmed by autopsy. CONCLUSIONS: The detection of Epstein-Barr virus DNA using the polymerase chain reaction in cerebrospinal fluid is useful for the diagnosis of primary cerebral lymphoma.

Age-dependent neurologic manifestations of HIV infection in childhood.

Although the neurologic complications of HIV- 1 infection during the first two years of life have been defined, the neurologic features in older children are not so well described. The present report is focused on the age-dependent neurologic presentation of HIV-1 infection. Sixty-two vertically HIV-1 infected children underwent detailed serial evaluations: neurologic assessment, neuropsychological tests, neuroimaging studies, and cerebrospinal fluid analysis. Neurologic involvement was found in 30 patients (48.3%). This population was divided into two groups, exhibiting progressive (83.3%) or nonprogressive (16.6%) neurologic signs and symptoms. In the first group of patients, progressive encephalopathy was distinguished from spastic paraparesis, possibly due to spinal cord involvement. The second group, represented by long-term survivors, requires clinical monitoring due to the possible prognostic value of acquired but presently nonprogressive signs of brain involvement. In contrast with the stereotyped features of the early form of progressive encephalopathy, the late form showed a polymorphic picture, with age-dependent neurologic manifestations. Multifocal white matter alterations and cerebral calcifications (sometimes with delayed onset and progression) were the prominent imaging findings. A correlation between cerebrospinal fluid HIV RNA levels, suggestive of viral replication within the central nervous system, and progressive neurological disease were also found.

Progressive multifocal leukoencephalopathy in a child with hyperimmunoglobulin E recurrent infection syndrome and review of the literature.

Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease due to infection with polyomavirus JC (JCV). PML occurs almost exclusively in immunocompromised patients, and although it has increased markedly in relation to AIDS, remains exceptional in children. We present the case of an immunocompromised child with hyperimmunoglobulin E recurrent infection syndrome (HIES) and pathologically-proven PML. HIES is a rare congenital immunodeficiency that to our knowledge has never before been reported in association with neurological complications. Following a recurrence of bronchopneumonia, the child's motor and cognitive functions deteriorated progressively in parallel with alterations on cerebral MRI. The neurological onset coincided with lymphocyte subset changes. PCR for JCV DNA did not detect the virus in CSF, and brain biopsy was required to secure the diagnosis. Antiviral treatment with cidofovir produced no benefit. Autopsy revealed the typical neuropathological findings of PML which were associated with inflammatory eosinophilic infiltrate (a marker of HIES). In accordance with the few pediatric PML cases reported and here reviewed, the child died five months after neurological onset.